Featured Research

from universities, journals, and other organizations

Geneticists unveil workings of three genes that control cell development and growth

Date:

March 1, 2011

Source:

University of Montreal

Summary:

By working with Canadians of French ancestry who suffer a rare genetic disease, researchers have discovered how three genes contribute to abnormal growth, making a breakthrough that will improve our understanding of many disorders such as fetal and childhood growth retardation, abnormal development of body parts and cancer.

Share This

By working with Canadians of French ancestry who suffer a rare genetic disease, researchers have discovered how three genes contribute to abnormal growth, making a breakthrough that will improve our understanding of many disorders such as fetal and childhood growth retardation, abnormal development of body parts and cancer.

Related Articles

"As a result of the Human Genome Project, we know the basic identity of essentially all the genes in the human body, but we don't automatically know what they do in detail," explained lead researcher Dr. Mark Samuels of the University of Montreal's Department of Medicine and the Sainte-Justine University Hospital Research Centre. "It's like opening your car and seeing the parts, but not knowing what each one does. When a part breaks however, you learn how it fits with the rest of the machine. Working with people who have specific health or development problems linked to specific genes enables us to see how those genes contribute to our bodies' development and functioning."

In this case, the team of researchers characterized the molecular basis in patients who suffer from Meier-Gorlin Syndrome (MGS), a rare disorder that is characterized by short stature, small ears, and absent or underdeveloped knee-caps. The patients were mostly francophonic, coming from the Maritimes, Quebec, British Columbia as well as the Louisiana Cajun community. MGS is a classic "single gene disorder," meaning it is related to mutations in individual genes, although in the case of MGS different patients surprisingly seem to carry mutations in any of three different genes.

The genes are called ORC1L, ORC4L and CDT1, and are known to play a critical role in correct copying of DNA. Cells reproduce by dividing in two. All the chromosomes must also be duplicated. This process is tightly controlled to prevent having too many or two few copies of large segments of the genome. "This seems to be the first example of any naturally occurring, inherited mutations identified in this set of important regulatory genes in any mammal. Finding the genes is a great example of the value of this type of research," Samuels said. "We learn the cause of the disease, and discover new things about our cellular function. However we still have a lot to learn about why mutations in these genes lead to the specific consequences in Meier-Gorlin patients."

There are 20-25,000 genes in the human genetic sequence, and it's important to note that they don't necessarily each correspond to a specific function or group of functions, or indeed to a single disease. The same gene can have subtle effects on a number of bodily functions. Moreover, in complex genetic diseases -- diabetes, for example -- environment and lifestyle have as much or more of an impact on health than a person's genetic background.

"Understanding rare genetic conditions like MGS is important to the general public for two reasons," Samuels stressed. "Firstly, they provide insight into how our genes, and therefore our bodies, work. Secondly, although there are few people concerned for each particular disorder, in sum all patients with genetic conditions consume substantial amounts of health resources, and by diagnosing them more quickly, we can improve patient management and reduce the strain on the health care system." Research suggests that up to 70% of admissions to paediatric hospitals may be related to some kind of genetic disorder. "It's also important to note that behind the science and the statistics, there are real people suffering. It's an immense relief for patients and their families to finally have a clear diagnosis," Samuels added.

In an unusual coincidence, a competing team of researchers obtained similar findings on Meier-Gorlin Syndrome in a different set of patients. These findings were published in the same issue of Nature Genetics. Samuels notes, "Neither team can claim absolute priority in the discovery. However this is the way science works best: when important results are quickly verified by multiple teams independently."

The findings were published in Nature Genetics and involved researchers from Dalhousie University, the University of Montreal-CHU Ste-Justine, the University of Louisiana and the University of British Columbia. The AMGGI project is funded by Industry Canada via Genome Canada and Genome Atlantic, as well as a large number of organizations, including the Atlantic Canada Opportunities Agency -- Atlantic Innovation Fund, Dalhousie University, Capital Health and the IWK Foundation.

University of Montreal. "Geneticists unveil workings of three genes that control cell development and growth." ScienceDaily. ScienceDaily, 1 March 2011. <www.sciencedaily.com/releases/2011/03/110301091221.htm>.

University of Montreal. (2011, March 1). Geneticists unveil workings of three genes that control cell development and growth. ScienceDaily. Retrieved March 3, 2015 from www.sciencedaily.com/releases/2011/03/110301091221.htm

University of Montreal. "Geneticists unveil workings of three genes that control cell development and growth." ScienceDaily. www.sciencedaily.com/releases/2011/03/110301091221.htm (accessed March 3, 2015).

More From ScienceDaily

More Health & Medicine News

Featured Research

Mar. 3, 2015  New assays can detect malaria parasites in human blood at very low levels and might be helpful in the campaign to eradicate malaria, reports a new study. An international team led by Ingrid Felger, ... full story

Mar. 3, 2015  Adults over the age of 30 only catch flu about twice a decade, a new study suggests. So, while it may feel like more, flu-like illness can be caused by many pathogens, making it difficult to assess ... full story

Mar. 3, 2015  No significant change in home habits of smokers have been observed in the aftermath of a ban on smoking in public spaces, researchers report. Greater inspiration to kick the habit likely comes from ... full story

Mar. 3, 2015  Heart function has been associated with the development of dementia and Alzheimer's disease through a new study. Participants with decreased heart function, measured by cardiac index, were two to ... full story

Mar. 3, 2015  Children of recently separated or divorced families are likelier to drink sugar-sweetened beverages than children in families where the parents are married, putting them at higher risk for obesity ... full story

Mar. 3, 2015  Gastric bypass and similar stomach-shrinking surgeries are a popular option for obese patients looking to lose weight or treat type 2 diabetes. While the surgeries have been linked to a decreased ... full story

Mar. 3, 2015  Most people consume more salt than they need and therefore have a higher risk of heart disease and stroke, which are the two leading causes of death worldwide. But a new study reveals that dietary ... full story

Mar. 3, 2015  Twice as many children born to mothers who took antibiotics during pregnancy were diagnosed with asthma by age 3 than children born to mothers who didn’t take prenatal antibiotics, a new study has ... full story

Mar. 3, 2015  Although sedatives are often administered before surgery, a randomized trial finds that among patients undergoing elective surgery under general anesthesia, receiving the sedative lorazepam before ... full story

Featured Videos

Mom Triumphs Over Tragedy, Helps Other Families

AP (Mar. 3, 2015)  After her son, Dax, died from a rare form of leukemia, Julie Locke decided to give back to the doctors at St. Jude Children&apos;s Research Hospital who tried to save his life. She raised $1.6M to help other patients and their families. (March 3)
Video provided by AP

Looted and Leaking, South Sudan's Oil Wells Pose Health Risk

AFP (Mar. 3, 2015)  Thick black puddles and a looted, leaking ruin are all that remain of the Thar Jath oil treatment facility, once a crucial part of South Sudan&apos;s mainstay industry. Duration: 01:13
Video provided by AFP

Woman Convicted of Poisoning Son

AP (Mar. 3, 2015)  A woman who blogged for years about her son&apos;s constant health woes was convicted Monday of poisoning him to death by force-feeding heavy concentrations of sodium through his stomach tube. (March 3)
Video provided by AP

Related Stories

July 23, 2014  A new study in East Asian women has identified three genetic changes linked to an increased risk of breast cancer. While breast cancer is one of the most common malignancies among women worldwide, ... full story

Feb. 14, 2014  Maternal exposure to alcohol in-utero is a known risk and cause of Fetal Alcohol Syndrome (FAS). FAS children suffer significant problems such as retarded intellect, stunted growth and nervous ... full story

May 4, 2011  When the human genome project produced a map of human genes, the number of genes in humans turned out to be relatively small, approximately the same number as in primitive nematode worms. The ... full story

Apr. 13, 2011  To ensure normal fetal development and prevent disease, it is crucial that certain genes are turned on or off in the right time intervals. Researchers have now shown how the TET1 enzyme controls the ... full story

Apr. 7, 2010  New research suggests that 'growth genes' are not driven by age, but by the process of growth itself, opening doors for organ regeneration as well as new treatments for abnormal body growth ... full story

ScienceDaily features breaking news and videos about the latest discoveries in health, technology, the environment, and more -- from major news services and leading universities, scientific journals, and research organizations.